Síndrome de Noonan / Noonan syndrome

Se presenta un caso de Síndrome de Noonan, enfermedad genética poco frecuente con manifestaciones clínicas diversas, con una característica afectación cardiovascular como es la estenosis valvular pulmonar. La paciente ingresa en insuficiencia cardiaca y durante la observación se detectan datos clínicos típicamente descritos en la enfermedad, tales como talla baja, hipertelorismo, pterigium coli y tórax carinatum. Se evalúa de manera conjunta con genética y se identifican los criterios diagnósticos. La paciente es compensada y egresada por mejoría

A case of Noonan´s Syndrome, is reported here. This is a rare genetic disease with diverse clinical manifestations, with a characteristic cardiovascular involvement of pulmonary valve stenosis. The patient was admitted with heart failure. Typical clinical features were found such as short stature, hypertelorism, pterygium coli and thorax carinatum. The patient was evaluated with the genetic specialists and diagnostic criteria were identified

Major Determinants and Long-Term Outcomes of Successful Balloon Dilatation for the Pediatric Patients with Isolated Native Valvular Pulmonary Stenosis: A 10-Year Institutional Experience

PURPOSE: We report herein major determinants and long- term outcomes of balloon dilatation (BD) for 27 pediatric patients with isolated native valvular pulmonary stenosis (VPS). MATERIALS AND METHODS: From May 1997 to May 2003, 27 pediatric patients with VPS (pressure gradients> or =40mmHg) were enrolled in this retrospective study. Single-balloon maneuver was applied in 26 patients, and double- balloon maneuver in 1. After BD, the pressure gradients were documented simultaneously by pullback maneuver by cardiac catheterization and echocardiography within 24 hours, at 1- month, 3-month, 1-year, and 4-to-10-year follow-ups. RESULTS: Before BD, the echocardiographic gradients ranged from 40 to 101mmHg (61+/-19, 55), and from 40 to 144mmHg (69+/-32, 60) by pressure recordings. After BD, the gradients ranged from 12 to 70mmHg (29+/-13, 27) by pressure recording (p<0.001), and from 11 to 64mmHg (27+/-12, 26) by echocardiography within 24 hrs (p<0.001). The ratios of the systolic pressure of the right ventricle to those of the left ventricle were 55 to 157% (89+/-28, 79%) before BD, and 30 to 79% (47+/-13, 42%) after BD p<0.001). Follow-up (7.7+/-5.7, 4.5 years) echocardiographic gradients ranged from 11 to 61mmHg (25+/-11, 24). Two patients did not have immediate success owing to infundibular spasm. Improved right ventricular compliance could be accounted for the ultimate success in these 2 patients. The ultimate successful rate was 100%. CONCLUSION: BD can achieve excellent long-term outcomes in the pediatric patients with isolated native VPS.

Ecocardiografía fetal: evaluación y resultados en una unidad de perinatología: Universidad de los Andes Táchira- Venezuela / Fetal echocardiography: evaluation and results in a perinatology unit: Universidad de Los Andes Tachira-Venezuela

Exponer los resultados obtenidos en una clínica de Atención Perinatológica, como parte de un programa de pesquisaje entre las 20 y 36 semanas de gestación, de la imagen de 4 cavidades del corazón fetal, con el fin de contribuir al diagnóstico prenatal de las cardiopatías por ultrasonido y a su vez, a mejorar la atención al recién nacido cardiópata y disminuir la mortalidad por esta patología, que en la mayoría de los casos son operables y de buen pronóstico a temprana edad. Se realizó un diseño descriptivo, retrospectivo. Se analizaron los resultados ecográficos realizados en el período comprendido de junio 2002 a junio 2006. Los exámenes fueron realizados utilizando los planos de sección tradicional de la ecocardiografía y los modos M, B, y Doppler, con un equipo de la marca Medison Gaia 9000 con transductor 3,5 megahertz. Se estudiaron 526 gestantes entre las 20 y 36 semanas de gestación y se les realizó 544 ecocardiografías fetales. Se evaluó la concordancia entre la ecocardiografía prenatal y posnatal en los casos positivos. De los 544 estudios realizados durante el período 2002-2006, 457 fueron normales y se diagnosticaron en 87, anormalidades tales como: masas ecorrefringentes (14,59 por ciento); foramen ovale amplio (8,05 por ciento); velocimetría umbilical anormal (18,39 por ciento); derrame pericárdico (6,9 por ciento); hidrops fetalis (1,15 por ciento); alteración del ritmo (18,39 por ciento); dilatación ventricular derecha (5,74 por ciento); dextrocardia(1,15 por ciento); hipertrofia del septum interventricular (18,39 por ciento); cardiopatías (6,9 por ciento). Las cardiopatías encontradas fueron: ventrículo único 1; defecto de septación atrioventricular 1; comunicación interventricular 2; estenosis pulmonar critica 1; drenaje anómalo pulmonar total (DAPT)1; representando el 6,9 por ciento de los casos positivos (6/87) y el 1,10 por ciento (6/544) del total de ecocardiografías fetales realizadas.

To present the results obtained in a perinatologyc attention clinic as a part a search program between the 20th and 36th weeks of gestation, from the image of 4 heart cavities in order to help in the prenatal diagnose of prenatal cardiopaties through ultrasound and at the same time improve the attention to the cardiopat newborn and decrease mortality caused by this illness which, in mostcases, are manageable by surgery and offer a well prognosisat a short age. A descriptive design in retrospect was carried out. The echographyc results carried outin the period comprised between June 2002 to June 2006 were analyzed. The exams were done using the echocardiography traditional section blueprints and the M.B. and Doppler modes, with equipment brand Medison Gaia 9000 with transductor 3.5 megahertz. The studies were conducted on 526 gestants between the 20th and 36th weeks of gestation and they were carried out 544 fetal echocardiographies. The concordance between pre and postnatal echocardiographies in positive cases was evaluated. Out of the 544 studies carried out during the period 2002-2006, 457 were normal and 87 were diagnosed abnormalities such as: ecorefringent masses (14,59%); ample foramen ovale (8,05 %); abnormal umbilical speedometry (18,39%); pericardic overflow (6,9%); hidrops fetalis (1.15%); rhythm alteration (18,39%); right ventricular expansion (5,74%); dextrocardia (1,15%); interventricular septum hypertrophy (18,39%); cardiopathies (6,9%). The cardiopathies found were: Single ventricle1: atrioventricular septation defect 1; Interventricular communication 2; Critical lung stenosis 1; Total lung anomalous drainage 1; representing 6,9% of positive cases (6/87) and 1,10% (6/544) out of the total of fetal echocardiographies carried out. Other analyzed data were the gestant age which was located between the 20th and 36th weeks (533/544) and the ethereal grouping between 26 and 35 years (355/544). There were found 153 patients.

Estenosis valvular pulmonar: estudio de 150 casos / Valvular pulmonary stenosis: study of 150 cases

Se revisan aspectos clínicos y algunos paraclínicos representativos de la estenosis valvular pulmonar en una muestra de 150 niños del Hospital de Niños "J.M. de los Ríos", durante el período 1984-1994

Tetralogy of Fallot in adults--107 cases.

Clinical and haemodynamic profile of 107 adult patients above the age of 15 years with TOF was analysed. Cardiac catherization and selective cine-angiography were performed in all cases. Infundibular pulmonary stenosis, mal-alignment type of ventricular septal defect, mitral-aortic fibrous continuity and equal systolic pressures in both the ventricles and aorta were considered mandatory for the diagnosis of Tetralogy of Fallot. Aortic regurgitation was seen in 26 cases (24%), tricuspid regurgitation in 22 cases (21%), absent pulmonary valve in 3 cases (3%), branch pulmonary artery stenosis in 9 case (8.4%), major aortopulmonary collaterals in 15 cases (14%), right atrial pressure was more than 10 mmHg in 10 cases (11%) and right ventricular end diastolic pressure more than 9 mmHg in 73 cases (68%). The left ventricular end diastolic pressure was above 13 mmHg in 58 cases (54%).